Conflation of Short Identity-by-Descent Segments Bias Their Inferred Length Distribution.

ABSTRACT: Identity-by-descent (IBD) is a fundamental concept in genetics with many applications. In a common definition, two haplotypes are said to share an IBD segment if that segment is inherited from a recent shared common ancestor without intervening recombination. Segments several cM long can be efficiently detected by a number of algorithms using high-density SNP array data from a population sample, and there are currently efforts to detect shorter segments from sequencing. Here, we study a problem of identifiability: because existing approaches detect IBD based on contiguous segments of identity-by-state, inferred long segments of IBD may arise from the conflation of smaller, nearby IBD segments. We quantified this effect using coalescent simulations, finding that significant proportions of i

SUBMITTER: Chiang CW 

PROVIDER: S-EPMC4856080 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature